Enfermidades Raras e Medicina Pediátrica
Publicacións (473) Publicacións nas que participase algún/ha investigador/a
2024
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Cancer is not a risk factor for severe COVID-19 in children, except in patients with recent allogeneic hematopoietic stem cell transplantation or comorbidities
Pediatric Blood and Cancer, Vol. 71, Núm. 8
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Characterization of the plasma proteomic profile of Fabry disease: Potential sex- and clinical phenotype-specific biomarkers
Translational Research, Vol. 269, pp. 47-63
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Consenso AITP español: Una lista de verificación AITP
Cirugia pediatrica : organo oficial de la Sociedad Espanola de Cirugia Pediatrica, Vol. 37, Núm. 2, pp. 50-54
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Inflammatory and Cardiovascular Biomarkers to Monitor Fabry Disease Progression
International Journal of Molecular Sciences, Vol. 25, Núm. 11
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Levodopa-Induced Dyskinesias are Frequent and Impact Quality of Life in Parkinson's Disease: A 5-Year Follow-Up Study
Movement Disorders Clinical Practice, Vol. 11, Núm. 7, pp. 830-849
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Palliative care for children with central nervous system tumors: results of a Spanish multicenter study
Clinical and Translational Oncology, Vol. 26, Núm. 3, pp. 786-795
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Participation and satisfaction results from an online Bioethics course for first year residents
Educacion Medica, Vol. 25, Núm. 2
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Plasma IGFBP-3 and IGFBP-5 levels are decreased during acute manic episodes in bipolar disorder patients
Frontiers in Pharmacology, Vol. 15
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Pulmonary function and bronchopulmonary dysplasia classification: insights from the Spanish Registry
European Journal of Pediatrics
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Re-irradiation for progressive Diffuse Intrinsic Pontine Glioma (DIPG): The Spanish experience
EJC Paediatric Oncology, Vol. 4
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Realidad virtual inmersiva y ejercicio terapéutico como herramienta de rehabilitación pediátrica en Enfermedad de Castleman multicéntrica idiopática-TAFRO: estudio de caso
Retos: nuevas tendencias en educación física, deporte y recreación, Núm. 56, pp. 959-965
2023
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A murine model of BSCL2-associated Celia's encephalopathy
Neurobiology of Disease, Vol. 187
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Changes in Principal Caregiver Mood Affects the Mood of the Parkinson's Disease Patient: The Vicious Cycle of Illness
Journal of Parkinson's disease, Vol. 13, Núm. 2, pp. 219-231
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Coeliac Disease Case–Control Study: Has the Time Come to Explore beyond Patients at Risk?
Nutrients, Vol. 15, Núm. 5
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Cognitive impairment and dementia in young onset Parkinson’s disease
Journal of Neurology, Vol. 270, Núm. 12, pp. 5793-5812
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Data from the European registry for patients with McArdle disease (EUROMAC): functional status and social participation
Orphanet Journal of Rare Diseases, Vol. 18, Núm. 1
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Dominant-negative heterozygous mutations in AIRE confer diverse autoimmune phenotypes
iScience, Vol. 26, Núm. 6
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Epidemiología de la miastenia grave en la península ibérica y Latinoamérica
Revista de neurologia, Vol. 76, Núm. 2, pp. 59-68
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Erratum: New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy(Brain (2020) 143:9 (2696–2708) DOI:10.1093/brain/awaa228)
Brain
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Fabry Disease and Central Nervous System Involvement: From Big to Small, from Brain to Synapse
International journal of molecular sciences, Vol. 24, Núm. 6